Recurrent Infections from Adult-Onset Lymphatic Malformation. A Management Conundrum.

Abstract

Background

Lymphatic malformation of the breast is a rare condition that may pose as a diagnostic dilemma and result in debilitating outcomes for the affected patient.

Method

We present a case of adult-onset lymphatic malformation of the breast complicated by recurrent infections, that posed a clinical conundrum.

Result

33-year-old female from Papua New Guinea, previously well, no family history of cancer, first presented with a 6-year history of persistent left breast skin nodules and recurrent infections. She was previously evaluated and treated overseas with multiple investigations and procedures including incision and drainage of left breast in 2017 and excision biopsy of left axillary nodes in 2018, however all results were indeterminate and showed mainly inflammatory infiltrates with no infective cause. Of note, patient underwent excision of left chest wall lump when she was 7 years old. She presented to our center with warty saccular compressible nodules, clear frogspawn -like vesicles over left breast including areola, left chest wall and left upper inner arm and a 8cm scar inferior chest wall scar. She was reviewed by a multidisciplinary vascular malformation team and MRI breast showed no evidence of breast cancer with possible lymphangiectasia. Targeted ultrasound showed no evidence of lymphatic or venous malformation. The patient underwent excision biopsy of left breast cutaneous nodule and histology returned as lymphangiomatous proliferation of superficial dermal lymphatic vessels with a PIK3CA mutation. Lymphoscintigraphy demonstrated absent lymphatic channels in the left breast. Patient was counselled on management options including conservative management with wrapping, symptomatic treatments to remove cutaneous nodules, breast reduction, lymphaticovenous anastomosis and medical management with sirolimus. Patient eventually decided on medical management with sirolimus.

There are currently no studies that have described a breast lymphatic malformation with PIK3CA Exon 10.c.1636C>Ap(Gln546Lys) mutation.

Conclusion

Adult-onset breast lymphatic malformation is extremely rare. Multimodality and multidisciplinary approach may be required to aid in the diagnosis and management of this condition.